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A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformati...

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Detalles Bibliográficos
Autores Principales: Ortega-Recalde, Oscar, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Mateus, Heidi Eliana, van der Knaap, Marjo S., Fonseca-Mendoza, Dora Janeth, Restrepo, Carlos M., Laissue, Paul
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: 2013
Materias:
Flavoprotein
Messenger rna
Reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone)
Reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinone) flavoprotein 1
Unclassified drug
Article
Bioinformatics
Blood analysis
Cerebrospinal fluid analysis
Child
Clinical article
Clinical feature
Diffuse leukodystrophy
Disorders of mitochondrial functions
Female
Gene deletion
Heterozygosity
Human
Human tissue
Leukodystrophy
Male
Missense mutation
Nuclear magnetic resonance imaging
Nucleotide sequence
Preschool child
Priority journal
Rna synthesis
Skin biopsy
Stop codon
Ci
Complex i
Genetics
Md
Mitochondrial disease
Mitochondrial respiratory chain disorders
Ndufv1 mutations
Nmd
Nonsense-mediated decay
Amino acid sequence
Energy metabolism
Heterozygote
Humans
Magnetic resonance imaging
Mitochondrial diseases
Molecular sequence data
Nadh dehydrogenase
preschool
missense
Mutation
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22599
https://doi.org/10.1016/j.mito.2013.03.010

Internet

https://repository.urosario.edu.co/handle/10336/22599
https://doi.org/10.1016/j.mito.2013.03.010

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